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Aliases for SIAH2 Gene

Aliases for SIAH2 Gene

  • Siah E3 Ubiquitin Protein Ligase 2 2 3 5
  • Seven In Absentia Homolog 2 3 4
  • Siah-2 3 4
  • HSiah2 3 4
  • Seven In Absentia (Drosophila) Homolog 2 2
  • Seven In Absentia Homolog 2 (Drosophila) 2
  • EC 6.3.2.- 4
  • EC 6.3.2 63

External Ids for SIAH2 Gene

Previous GeneCards Identifiers for SIAH2 Gene

  • GC03M147291
  • GC03M151291
  • GC03M151740
  • GC03M151779
  • GC03M151941
  • GC03M150458
  • GC03M147832

Summaries for SIAH2 Gene

Entrez Gene Summary for SIAH2 Gene

  • This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in regulating cellular response to hypoxia. [provided by RefSeq, Jul 2008]

GeneCards Summary for SIAH2 Gene

SIAH2 (Siah E3 Ubiquitin Protein Ligase 2) is a Protein Coding gene. Diseases associated with SIAH2 include hypoxia. Among its related pathways are Transport to the Golgi and subsequent modification and Immune System. GO annotations related to this gene include ligase activity and transcription corepressor activity. An important paralog of this gene is SIAH3.

UniProtKB/Swiss-Prot for SIAH2 Gene

  • E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates E3 ubiquitin ligase activity either through direct binding to substrates or by functioning as the essential RING domain subunit of larger E3 complexes. Triggers the ubiquitin-mediated degradation of many substrates, including proteins involved in transcription regulation (POU2AF1, PML, NCOR1), a cell surface receptor (DCC), an antiapoptotic protein (BAG1), and a protein involved in synaptic vesicle function in neurons (SYP). Mediates ubiquitination and proteasomal degradation of DYRK2 in response to hypoxia. It is thereby involved in apoptosis, tumor suppression, cell cycle, transcription and signaling processes. Has some overlapping function with SIAH1. Triggers the ubiquitin-mediated degradation of TRAF2, whereas SIAH1 can not. Promotes monoubiquitination of SNCA.

Gene Wiki entry for SIAH2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SIAH2 Gene

Genomics for SIAH2 Gene

Regulatory Elements for SIAH2 Gene

Promoters for SIAH2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SIAH2 on UCSC Golden Path with GeneCards custom track

Genomic Location for SIAH2 Gene

Chromosome:
3
Start:
150,741,123 bp from pter
End:
150,763,477 bp from pter
Size:
22,355 bases
Orientation:
Minus strand

Genomic View for SIAH2 Gene

Genes around SIAH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SIAH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SIAH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SIAH2 Gene

Proteins for SIAH2 Gene

  • Protein details for SIAH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43255-SIAH2_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase SIAH2
    Protein Accession:
    O43255
    Secondary Accessions:
    • O43270

    Protein attributes for SIAH2 Gene

    Size:
    324 amino acids
    Molecular mass:
    34615 Da
    Quaternary structure:
    • Homodimer. Interacts with UBE2E2. Interacts with PEG3 (By similarity). Interacts with VAV1, without mediating its ubiquitin-mediated degradation. Interacts with CACYBP/SIP. Probable component of some large E3 complex possibly composed of UBE2D1, SIAH2, CACYBP/SIP, SKP1, APC and TBL1X. Interacts with PEG10, which may inhibit its activity. Interacts with EGLN2 and SNCAIP. Interacts with DYRK2.

    Three dimensional structures from OCA and Proteopedia for SIAH2 Gene

neXtProt entry for SIAH2 Gene

Proteomics data for SIAH2 Gene at MOPED

Post-translational modifications for SIAH2 Gene

  • Phosphorylated at Ser-28 by MAPK14, which mediates the degradation by the proteasome of EGLN3 (By similarity). Phosphorylated at Ser-28 by DYRK2; this increases the ubiquitin ligase activity and promotes degradation of EGLN3.
  • Ubiquitination at Lys 13 and Lys 107
  • Modification sites at PhosphoSitePlus

Other Protein References for SIAH2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for SIAH2 Gene

Suggested Antigen Peptide Sequences for SIAH2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43255

UniProtKB/Swiss-Prot:

SIAH2_HUMAN :
  • The RING-type zinc finger domain is essential for ubiquitin ligase activity.
  • Belongs to the SINA (Seven in absentia) family.
  • Contains 1 RING-type zinc finger.
Domain:
  • The RING-type zinc finger domain is essential for ubiquitin ligase activity.
  • The SBD domain (substrate-binding domain) mediates the homodimerization and the interaction with substrate proteins. It is related to the TRAF family (By similarity).
Family:
  • Belongs to the SINA (Seven in absentia) family.
Similarity:
  • Contains 1 RING-type zinc finger.
  • Contains 1 SIAH-type zinc finger.
genes like me logo Genes that share domains with SIAH2: view

No data available for Gene Families for SIAH2 Gene

Function for SIAH2 Gene

Molecular function for SIAH2 Gene

GENATLAS Biochemistry:
Drosophila seven in absentia (sina) homolog 2,involved in vertebrate (? photoreceptor) development,widely expressed,also mediating through RING finger,ubiquitin-conjugating enzyme (E2)-dependent ubiquitination
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by interaction with SNCAIP (isoform 2, but not isoform 1). May be inhibited by interaction with PEG10.
UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase that mediates ubiquitination and subsequent proteasomal degradation of target proteins. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates E3 ubiquitin ligase activity either through direct binding to substrates or by functioning as the essential RING domain subunit of larger E3 complexes. Triggers the ubiquitin-mediated degradation of many substrates, including proteins involved in transcription regulation (POU2AF1, PML, NCOR1), a cell surface receptor (DCC), an antiapoptotic protein (BAG1), and a protein involved in synaptic vesicle function in neurons (SYP). Mediates ubiquitination and proteasomal degradation of DYRK2 in response to hypoxia. It is thereby involved in apoptosis, tumor suppression, cell cycle, transcription and signaling processes. Has some overlapping function with SIAH1. Triggers the ubiquitin-mediated degradation of TRAF2, whereas SIAH1 can not. Promotes monoubiquitination of SNCA.

Enzyme Numbers (IUBMB) for SIAH2 Gene

Gene Ontology (GO) - Molecular Function for SIAH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016874 ligase activity IEA --
genes like me logo Genes that share ontologies with SIAH2: view
genes like me logo Genes that share phenotypes with SIAH2: view

Animal Models for SIAH2 Gene

MGI Knock Outs for SIAH2:

Animal Model Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SIAH2 Gene

Localization for SIAH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SIAH2 Gene

Cytoplasm. Nucleus. Note=Predominantly cytoplasmic. Partially nuclear.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SIAH2 Gene COMPARTMENTS Subcellular localization image for SIAH2 gene
Compartment Confidence
cytosol 5
nucleus 5
endosome 2
extracellular 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SIAH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005769 early endosome IEA --
genes like me logo Genes that share ontologies with SIAH2: view

Pathways & Interactions for SIAH2 Gene

genes like me logo Genes that share pathways with SIAH2: view

Pathways by source for SIAH2 Gene

1 GeneGo (Thomson Reuters) pathway for SIAH2 Gene

UniProtKB/Swiss-Prot O43255-SIAH2_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

SIGNOR curated interactions for SIAH2 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for SIAH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction TAS 10207103
GO:0007411 axon guidance TAS --
GO:0016567 protein ubiquitination IEA --
GO:0031396 regulation of protein ubiquitination IEA --
GO:0042787 protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA --
genes like me logo Genes that share ontologies with SIAH2: view

Drugs & Compounds for SIAH2 Gene

(3) Drugs for SIAH2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0
Diphosphate Experimental Pharma 0

(1) Additional Compounds for SIAH2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
genes like me logo Genes that share compounds with SIAH2: view

Transcripts for SIAH2 Gene

mRNA/cDNA for SIAH2 Gene

Unigene Clusters for SIAH2 Gene

Siah E3 ubiquitin protein ligase 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SIAH2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b
SP1: - -
SP2: -
SP3:

Relevant External Links for SIAH2 Gene

GeneLoc Exon Structure for
SIAH2
ECgene alternative splicing isoforms for
SIAH2

Expression for SIAH2 Gene

mRNA expression in normal human tissues for SIAH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SIAH2 Gene

This gene is overexpressed in Whole Blood (x5.7).

Protein differential expression in normal tissues from HIPED for SIAH2 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SIAH2 Gene



SOURCE GeneReport for Unigene cluster for SIAH2 Gene Hs.477959

mRNA Expression by UniProt/SwissProt for SIAH2 Gene

O43255-SIAH2_HUMAN
Tissue specificity: Widely expressed at low level.
genes like me logo Genes that share expression patterns with SIAH2: view

Protein tissue co-expression partners for SIAH2 Gene

Primer Products

In Situ Assay Products

Orthologs for SIAH2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SIAH2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SIAH2 35
  • 93.21 (n)
  • 98.77 (a)
SIAH2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SIAH2 35
  • 88.89 (n)
  • 99.61 (a)
mouse
(Mus musculus)
Mammalia Siah2 35
  • 92.57 (n)
  • 97.83 (a)
Siah2 16
Siah2 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SIAH2 35
  • 99.9 (n)
  • 100 (a)
SIAH2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Siah2 35
  • 92.98 (n)
  • 98.14 (a)
oppossum
(Monodelphis domestica)
Mammalia SIAH2 36
  • 96 (a)
OneToOne
chicken
(Gallus gallus)
Aves SIAH2 35
  • 83.91 (n)
  • 92.16 (a)
SIAH2 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia siah2 35
  • 78.2 (n)
  • 86.79 (a)
African clawed frog
(Xenopus laevis)
Amphibia siah2-A 35
zebrafish
(Danio rerio)
Actinopterygii siah2l 35
  • 78.92 (n)
  • 91.7 (a)
siah2l 36
  • 74 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG13030 37
  • 37 (a)
sina 37
  • 81 (a)
sina 36
  • 67 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y37E11AR.2 37
  • 67 (a)
siah-1 36
  • 44 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8769 36
  • 81 (a)
OneToMany
Species with no ortholog for SIAH2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SIAH2 Gene

ENSEMBL:
Gene Tree for SIAH2 (if available)
TreeFam:
Gene Tree for SIAH2 (if available)

Paralogs for SIAH2 Gene

Paralogs for SIAH2 Gene

(2) SIMAP similar genes for SIAH2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SIAH2: view

Variants for SIAH2 Gene

Sequence variations from dbSNP and Humsavar for SIAH2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs8072 -- 150,741,406(-) TTTGG(C/T)CACTC utr-variant-3-prime
rs8403 -- 150,741,218(-) ATAAC(A/C/T)GGTGT utr-variant-3-prime
rs1148368 -- 150,747,606(-) TGTTC(C/T)TTAGA intron-variant
rs1533711 -- 150,752,209(+) ACCAC(A/G)TAACT intron-variant
rs1879420 -- 150,748,777(+) CTTTC(C/T)TTCAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SIAH2 Gene

Variant ID Type Subtype PubMed ID
nsv4061 CNV Insertion 18451855
esv25944 CNV Loss 19812545

Variation tolerance for SIAH2 Gene

Residual Variation Intolerance Score: 25.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.46; 54.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SIAH2 Gene

HapMap Linkage Disequilibrium report
SIAH2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SIAH2 Gene

Disorders for SIAH2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SIAH2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
hypoxia
- elite association - COSMIC cancer census association via MalaCards
Search SIAH2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SIAH2

Genetic Association Database (GAD)
SIAH2
Human Genome Epidemiology (HuGE) Navigator
SIAH2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SIAH2
genes like me logo Genes that share disorders with SIAH2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SIAH2 Gene

Publications for SIAH2 Gene

  1. Mammalian homologs of seven in absentia regulate DCC via the ubiquitin-proteasome pathway. (PMID: 9334332) Hu G. … Fearon E.R. (Genes Dev. 1997) 2 3 4 67
  2. Proteomic characterization of protein phosphatase 1 complexes in ischemia-reperfusion and ischemic tolerance. (PMID: 17683050) Cid C. … Alcazar A. (Proteomics 2007) 3 23
  3. Estrogen down-regulation of the corepressor N-CoR: mechanism and implications for estrogen derepression of N-CoR-regulated genes. (PMID: 16141343) Frasor J. … Katzenellenbogen B.S. (Proc. Natl. Acad. Sci. U.S.A. 2005) 3 23
  4. Interaction of AF4 wild-type and AF4.MLL fusion protein with SIAH proteins: indication for t(4;11) pathobiology? (PMID: 15221006) Bursen A. … Marschalek R. (Oncogene 2004) 3 23
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for SIAH2 Gene

Sources for SIAH2 Gene

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